LiFraumeniszindróma

Li Fraumeni syndrome is a rare inherited cancer predisposition syndrome. It significantly increases a person's risk of developing several types of cancer, often at an early age. The syndrome is caused by mutations in the TP53 gene, which is a tumor suppressor gene. This gene plays a crucial role in regulating cell division and preventing the accumulation of genetic errors that can lead to cancer.

Individuals with Li Fraumeni syndrome have a germline mutation in the TP53 gene, meaning it is present in all cells of their body and can be passed down to their children. This inherited mutation makes them highly susceptible to developing cancers such as soft tissue sarcomas, osteosarcomas (bone cancer), breast cancer, brain tumors, and leukemias. The cancers can occur at various sites and at different times throughout a person's life.

Diagnosis of Li Fraumeni syndrome typically involves genetic testing to identify a mutation in the TP53 gene. A family history of multiple early-onset cancers is also a strong indicator. Management strategies focus on early detection and surveillance for various cancers through regular medical check-ups and imaging tests. Due to the high cancer risk, genetic counseling is an important aspect for affected individuals and their families to understand the implications and inheritance patterns of the syndrome.